The first sign was so small it barely registered. A faint patch of discoloration on 7‑year‑old Lukas Caldwell’s cheek looked ...

Rare diseases are not actually that rare. Collectively they affect 500 million people around the world. Some, such as Huntington’s disease and sickle cell disease, affect many thousands, others only ...

"Beast Games" winner Jeff Allen hopes finding a cure for his son's rare disease will unlock new treatments for other brain conditions.

Researchers at the Sanford Stem Cell Institute have taken the fight against rare diseases to the lab, to patients’ bedsides ...

Torie Bosch is the First Opinion editor at STAT. Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome. Earlier this ...

For the local parents of a child with a rare disease, they were motivated to give back to those at CHOP who supported them.

Federal health officials on Monday laid out a proposal to spur development of customized treatments for patients with hard-to-treat diseases, including for rare genetic conditions that the ...

There is a process to a patient being diagnosed with a rare condition and then collaborating with their physician, if they are fortunate enough to have that opporunity. One recent qualitative study ...

Coryssa Barnes, of Henderson, N.C., welcomed her first child, Ezra, in 2020. At four months old, he was unable to sit without support. As time went on, he failed to reach other developmental ...

Global rare disease policy shifts are reshaping orphan drug development, with major implications for equitable access in the UK, EU and US.

Approval expands indication of JUXTAPID® to include children 2 years of age and older with HoFH. This announcement was made ...

RGX-121 was rejected in early February, with Regenxbio listing the primary reasons given by the FDA as concerns about the ability to properly define a patient population, the use of a natural history ...